Inherited neuromuscular junction disorders: Genotype phenotype correlations

被引：0
|
作者：
Vogt, Julie [1 ]
Morgan, N. V. [2 ]
Harrison, B. J. [2 ]
Rehal, P. [3 ]
Brueton, L. [1 ]
McKeown, C. [1 ]
Oley, C.
Beeson, D. [4 ]
MacDonald, F. [3 ]
Maher, E. R. [2 ]
机构：
[1] Birmingham Womens Hosp, W Midlands Clin Genet Unit, Birmingham, W Midlands, England
[2] Univ Birmingham, Dept Med & Mol Genet, Birmingham B15 2TT, W Midlands, England
[3] Birmingham Womens Hosp, W Midlands Reg Genet Lab, Birmingham, W Midlands, England
[4] John Radcliffe Hosp, Wealtherall Inst Mol Med, Neurosci Grp, Oxford, England
来源：
JOURNAL OF MEDICAL GENETICS | 2008年 / 45卷
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：S17 / S17
页数：1
相关论文
共 50 条
  • [41] Genotype-phenotype correlations in RHOBTB2associated neurodevelopmental disorders
    Langhammer, Franziska
    Maroofian, Reza
    Gregor, Anne
    Zweier, Christiane
    Rochman, Michelle
    Koopmans, Marije
    Kortuem, Fanny
    Mignot, Cyril
    Botti, Christina
    Ben-Zeev, Bruria
    Argilli, Emanuela
    Srinivasan, Varunvenkat
    Bakhtiari, Somayeh
    Kuchler, Alma
    Blocker, Karli
    Kuismin, Outi
    Park, Kristen
    Brown, Kathleen
    Ramanathan, Subha
    Al Alam, Chadi
    Melikishvili, Gia
    Stark, Zornitza
    Mirzaa, Ghayda
    Charif, Majida
    Bellaoui, Mohammed
    Al Mutairi, Fuad
    Grasshoff, Ute
    Tamim, Abdullah
    Alkuraya, Fowzan
    Sultan, Tipu
    Hashemi, Narges
    Karimiani, Ehsan Ghayoor
    Ashrafzadeh, Farah
    von Wintzingerode, Lydia
    Goldenberg, Paula
    Houlden, Henry
    Badar, Rueda
    Sticht, Heinrich
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 465 - 466
  • [42] Novel genotype-phenotype correlations in GABRB1-related disorders
    Millevert, C.
    Marini, C.
    Hedrich, U. B. S.
    Wuttke, T. V.
    Lerche, H.
    Weckhuysen, S.
    EPILEPSIA, 2023, 64 : 120 - 121
  • [43] Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders
    Yingting Quan
    Qiumeng Zhang
    Meilin Chen
    Huidan Wu
    Jianjun Ou
    Yidong Shen
    Kuokuo Li
    Guanglei Xun
    Jingping Zhao
    Zhengmao Hu
    Kun Xia
    Hui Guo
    Journal of Molecular Neuroscience, 2020, 70 : 2085 - 2092
  • [44] Genotype and Phenotype Correlations forTBL1XR1in Neurodevelopmental Disorders
    Quan, Yingting
    Zhang, Qiumeng
    Chen, Meilin
    Wu, Huidan
    Ou, Jianjun
    Shen, Yidong
    Li, Kuokuo
    Xun, Guanglei
    Zhao, Jingping
    Hu, Zhengmao
    Xia, Kun
    Guo, Hui
    JOURNAL OF MOLECULAR NEUROSCIENCE, 2020, 70 (12) : 2085 - 2092
  • [45] Genotype-phenotype correlations (II): Assessing the influence of sequence variants on the clinical phenotype in multifactorial disorders
    Silverman, LM
    Mifflin, TM
    CLINICAL CHEMISTRY, 2005, 51 (06) : 929 - 930
  • [46] CORRELATION OF PHENOTYPE WITH GENOTYPE IN INHERITED RETINAL DEGENERATION
    DAIGER, SP
    SULLIVAN, LS
    RODRIGUEZ, JA
    BEHAVIORAL AND BRAIN SCIENCES, 1995, 18 (03) : 452 - 467
  • [47] Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations
    Sahin, Ibrahim
    Erdem, Haktan B.
    Bahsi, Taha
    Saat, Hanife
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2024, 16 (02)
  • [48] Molecular Mechanisms, Genotype-Phenotype Correlations and Patient-Specific Treatments in Inherited Metabolic Diseases
    Pey, Angel L. L.
    JOURNAL OF PERSONALIZED MEDICINE, 2023, 13 (01):
  • [49] Genetic Analysis of Inherited Leukodystrophies Genotype-Phenotype Correlations in the CSF1R Gene
    Guerreiro, Rita
    Kara, Eleanna
    Le Ber, Isabelle
    Bras, Jose
    Rohrer, Jonathan D.
    Taipa, Ricardo
    Lashley, Tammaryn
    Dupuits, Celine
    Gurunlian, Nicole
    Mochel, Fanny
    Warren, Jason D.
    Hannequin, Didier
    Sedel, Frederic
    Depienne, Christel
    Camuzat, Agnes
    Golfier, Veronique
    Du Boisgueheneuc, Foucaud
    Schottlaender, Lucia
    Fox, Nick C.
    Beck, Jonathan
    Mead, Simon
    Rossor, Martin N.
    Hardy, John
    Revesz, Tamas
    Brice, Alexis
    Houlden, Henry
    JAMA NEUROLOGY, 2013, 70 (07) : 875 - 882
  • [50] Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants
    Fan, Xue
    Li, Zhen
    Sha, Lingzhi
    Sheng, Xunlun
    Rong, Weining
    SCIENTIFIC REPORTS, 2025, 15 (01):
12345